DGCR8 — 109 ClinVar variants
All ClinVar germline DGCR8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 74 flagged for review →
1 Conflicting · 5 Benign · 26 Likely benign · 77 Uncertain significance
Full DGCR8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 74
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 56
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DGCR8 p.Ala15Thr Uncertain significance Single submitter
- DGCR8 p.Ala179Thr Uncertain significance Single submitter
- DGCR8 p.Ala18Val Uncertain significance Single submitter
- DGCR8 p.Ala29Val Uncertain significance Single submitter
- DGCR8 p.Ala413Thr Uncertain significance Single submitter
- DGCR8 p.Ala419Ser Uncertain significance Single submitter
- DGCR8 p.Ala476Val Uncertain significance Single submitter
- DGCR8 p.Ala63Thr Uncertain significance Single submitter
- DGCR8 p.Arg106Gln Uncertain significance Single submitter
- DGCR8 p.Arg145Gln Uncertain significance Single submitter
- DGCR8 p.Arg227Ile Uncertain significance Single submitter
- DGCR8 p.Arg23Gln Uncertain significance Single submitter
- DGCR8 p.Arg25His Uncertain significance Single submitter
- DGCR8 p.Arg32Cys Uncertain significance Single submitter
- DGCR8 p.Arg447Cys Uncertain significance Single submitter
- DGCR8 p.Arg473Gln Uncertain significance Single submitter
- DGCR8 p.Arg700His Uncertain significance Single submitter
- DGCR8 p.Arg750Gln Uncertain significance Single submitter
- DGCR8 p.Arg84His Uncertain significance Single submitter
- DGCR8 p.Asp212Gly Uncertain significance Single submitter
- DGCR8 p.Asp406Gly Uncertain significance Single submitter
- DGCR8 p.Glu389Asp Uncertain significance Single submitter
- DGCR8 p.Glu407Lys Uncertain significance Single submitter
- DGCR8 p.Glu64Lys Uncertain significance Single submitter
- DGCR8 p.Gly165Asp Uncertain significance Single submitter
- DGCR8 p.Gly176Val Uncertain significance Single submitter
- DGCR8 p.Gly254Ser Uncertain significance Single submitter
- DGCR8 p.Gly269Arg Uncertain significance Single submitter
- DGCR8 p.Gly374Arg Uncertain significance Single submitter
- DGCR8 p.Gly765Ser Uncertain significance Single submitter
- DGCR8 p.Gly78Arg Uncertain significance Single submitter
- DGCR8 p.Leu151Phe Uncertain significance Single submitter
- DGCR8 p.Leu202Val Uncertain significance Single submitter
- DGCR8 p.Leu729Val Uncertain significance Single submitter
- DGCR8 p.Lys113Arg Uncertain significance Single submitter
- DGCR8 p.Met285Ile Uncertain significance Single submitter
- DGCR8 p.Pro26Arg Uncertain significance Single submitter
- DGCR8 p.Pro274Leu Uncertain significance Single submitter
- DGCR8 p.Pro402Thr Uncertain significance Single submitter
- DGCR8 p.Pro404Leu Uncertain significance Single submitter
- DGCR8 p.Pro405Arg Uncertain significance Single submitter
- DGCR8 p.Pro66Arg Uncertain significance Single submitter
- DGCR8 p.Pro89Leu Uncertain significance Single submitter
- DGCR8 p.Ser373Gly Uncertain significance Single submitter
- DGCR8 p.Ser377Pro Uncertain significance Single submitter
- DGCR8 p.Ser478Cys Uncertain significance Single submitter
- DGCR8 p.Ser585Cys Uncertain significance Single submitter
- DGCR8 p.Ser756Thr Uncertain significance Single submitter
- DGCR8 p.Thr220Met Uncertain significance Single submitter
- DGCR8 p.Tyr70Cys Uncertain significance Single submitter
- DGCR8 p.Val118Ile Uncertain significance Single submitter
- DGCR8 p.Val172Leu Uncertain significance Single submitter
- DGCR8 p.Val379Ile Uncertain significance Single submitter
- DGCR8 p.Val435Ile Uncertain significance Single submitter
- DGCR8 p.Val654Leu Uncertain significance Single submitter
-
DGCR8 p.Val225Ile
Uncertain significance
No assertion criteria
DGCR8-related disorder
Predictors split 17
The independent predictors disagree with each other — read with care.
- DGCR8 p.Arg295Pro Uncertain significance Single submitter
- DGCR8 p.Arg447Gly Uncertain significance Single submitter
- DGCR8 p.Arg473Trp Uncertain significance Single submitter
- DGCR8 p.Arg670Lys Uncertain significance Single submitter
- DGCR8 p.Arg700Cys Uncertain significance Single submitter
- DGCR8 p.Asp246Asn Uncertain significance Single submitter
- DGCR8 p.Glu428Lys Uncertain significance Single submitter
- DGCR8 p.Glu479Lys Uncertain significance Single submitter
- DGCR8 p.Ile680Val Uncertain significance Single submitter
- DGCR8 p.Leu136Pro Uncertain significance Single submitter
- DGCR8 p.Leu563Phe Uncertain significance Single submitter
- DGCR8 p.Lys457Asn Uncertain significance Single submitter
- DGCR8 p.Lys704Glu Uncertain significance Single submitter
- DGCR8 p.Pro507Leu Uncertain significance Single submitter
- DGCR8 p.Val122Met Uncertain significance Single submitter
- DGCR8 p.Val455Leu Uncertain significance Single submitter
- DGCR8 p.Val654Ala Uncertain significance Single submitter
All DGCR8 variants
Conflicting classifications of pathogenicity 1
- p.Ala759Val Single submitter ⚠
Benign 5
Likely benign 26
- p.Pro11= Multiple submitters
- c.1307-10T>C Single submitter
- c.1706-7T>C Single submitter
- p.Ala102= Single submitter
- p.Ala146= Single submitter
- p.Ala476= Single submitter
- p.Ala656= Single submitter
- p.Ala759= Single submitter
- p.Arg364Gln Single submitter
- p.Asp143= Single submitter
- p.Asp170= Single submitter
- p.Gly764= Single submitter
- p.His343= Single submitter
- p.Ile757= Single submitter
- p.Lys588Arg Single submitter
- p.Pro405Leu Single submitter
- p.Pro96= Single submitter
- p.Ser367Asn Single submitter
- p.Ser606= Single submitter
- p.Thr125= Single submitter
- p.Thr454= Single submitter
- p.Tyr609= Single submitter
- p.Val654Ile Single submitter
- p.Ala676= No assertion criteria DGCR8-related disorder
- p.Glu512= No assertion criteria DGCR8-related disorder
- p.Pro26= No assertion criteria DGCR8-related disorder
Uncertain significance 77
- p.Ala15Thr Single submitter ⚠
- p.Ala179Thr Single submitter ⚠
- p.Ala18Val Single submitter ⚠
- p.Ala29Val Single submitter ⚠
- p.Ala413Thr Single submitter ⚠
- p.Ala419Ser Single submitter ⚠
- p.Ala476Val Single submitter ⚠
- p.Ala63Thr Single submitter ⚠
- p.Arg106Gln Single submitter ⚠
- p.Arg145Gln Single submitter ⚠
- p.Arg227Ile Single submitter ⚠
- p.Arg23Gln Single submitter ⚠
- p.Arg25His Single submitter ⚠
- p.Arg295Pro Single submitter ⚠
- p.Arg32Cys Single submitter ⚠
- p.Arg447Cys Single submitter ⚠
- p.Arg447Gly Single submitter ⚠
- p.Arg473Gln Single submitter ⚠
- p.Arg473Trp Single submitter ⚠
- p.Arg670Lys Single submitter ⚠
- p.Arg700Cys Single submitter ⚠
- p.Arg700His Single submitter ⚠
- p.Arg750Gln Single submitter ⚠
- p.Arg84His Single submitter ⚠
- p.Asp207fs Single submitter
- p.Asp212Gly Single submitter ⚠
- p.Asp246Asn Single submitter ⚠
- p.Asp406Gly Single submitter ⚠
- p.Gln583Ter Single submitter
- p.Glu389Asp Single submitter ⚠
- p.Glu407Lys Single submitter ⚠
- p.Glu428Lys Single submitter ⚠
- p.Glu479Lys Single submitter ⚠
- p.Glu64Lys Single submitter ⚠
- p.Gly165Asp Single submitter ⚠
- p.Gly176Val Single submitter ⚠
- p.Gly254Ser Single submitter ⚠
- p.Gly269Arg Single submitter ⚠
- p.Gly374Arg Single submitter ⚠
- p.Gly765Ser Single submitter ⚠
- p.Gly78Arg Single submitter ⚠
- p.His687fs Single submitter autism spectrum disorder
- p.Ile680Val Single submitter ⚠
- p.Ile716Thr Single submitter
- p.Leu136Pro Single submitter ⚠
- p.Leu151Phe Single submitter ⚠
- p.Leu202Val Single submitter ⚠
- p.Leu563Phe Single submitter ⚠
- p.Leu729Val Single submitter ⚠
- p.Lys113Arg Single submitter ⚠
- p.Lys457Asn Single submitter ⚠
- p.Lys704Glu Single submitter ⚠
- p.Met285Ile Single submitter ⚠
- p.Pro26Arg Single submitter ⚠
- p.Pro274Leu Single submitter ⚠
- p.Pro402Thr Single submitter ⚠
- p.Pro404Leu Single submitter ⚠
- p.Pro405Arg Single submitter ⚠
- p.Pro507Leu Single submitter ⚠
- p.Pro66Arg Single submitter ⚠
- p.Pro89Leu Single submitter ⚠
- p.Ser373Gly Single submitter ⚠
- p.Ser377Pro Single submitter ⚠
- p.Ser478Cys Single submitter ⚠
- p.Ser585Cys Single submitter ⚠
- p.Ser756Thr Single submitter ⚠
- p.Thr220Met Single submitter ⚠
- p.Tyr70Cys Single submitter ⚠
- p.Val118Ile Single submitter ⚠
- p.Val122Met Single submitter ⚠
- p.Val172Leu Single submitter ⚠
- p.Val379Ile Single submitter ⚠
- p.Val435Ile Single submitter ⚠
- p.Val455Leu Single submitter ⚠
- p.Val654Ala Single submitter ⚠
- p.Val654Leu Single submitter ⚠
- p.Val225Ile No assertion criteria DGCR8-related disorder ⚠